Associated Papers
Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40970454 (PubMed )
Supplement: supplement_1.pdf
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Yektay Farahmand M et al.
Neurologia I Neurochirurgia Polska, 2024
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX et al.
Human Mutation, 2019
A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.
Ding Y et al.
Chinese Medical Journal, 2018
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification.
Wang C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification.
Yao XP et al.
Gene, 2016
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